T3I (p.Thr3Ile) variant of SETX (Helicase senataxin)
T3I (p.Thr3Ile) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- rs28941475
- ClinGen CA252185
- ClinVar RCV000002380
- ClinVar RCV000414273
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.54
- MetaLR 0.63
- MetaSVM 0.46
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in ALS4)
- UniProt: Pathogenic (in ALS4)
- Structural context available
- Cited in: DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (PMID 15106121)
- Cited in: A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2… (PMID 24105744)